Apert syndrome

Definition

Apert syndrome is a genetic disease in which the seams between the skull bones close earlier than normal. This affects the shape of the head and face.

Alternative Names

Acrocephalosyndactyly

Causes, incidence, and risk factors

Apert syndrome can be passed down through families (inherited). The syndrome is inherited as an autosomal dominant trait, which means that only one parent needs to pass on the faulty gene for a child to have the condition.

Some cases may occur without a known family history.

Apert syndrome is caused by mutations in a gene called fibroblast growth factor receptor 2. This gene defect causes some of the bony sutures of the skull to close too early, a condition called craniosynostosis.

Symptoms

Early closure of sutures between bones of the skull, noted by ridging along sutures

Frequent ear infections

Fusion or severe webbing of the 2nd, 3rd, and 4th fingers, often called "mitten hands"

Hearing loss

Large or late-closing soft spot on a baby's skull

Possible, slow intellectual development (varies from person to person)